C-KIT Sequencing
Definition
The KIT gene encodes a tyrosine kinase that is the stem cell factor receptor; activating mutations in exon 9, 11, 13, or 17 are found in about 75 to 80% of gastrointestinal stromal tumors (GIST), and the location of the mutation determines response to imatinib. In systemic mastocytosis, the D816V mutation in exon 17 is seen in over 90% of cases and is associated with imatinib resistance.
Gene/Region Examined
C-KIT Exon 8, C-KIT Exon 9, C-KIT Exon 10, C-KIT Exon 11, C-KIT Exon 13, C-KIT Exon 17
Method
DNA analysis
Accepted Sample Types
Fresh tumor tissue, FFPE
Description
Response to drug therapy, Gleevec (Imatinib).
Inheritance
KIT mutations in GIST and mastocytosis are mostly somatic; a germline KIT mutation may be found in rare familial GIST syndromes.